Samd12 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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21 records found for search term Samd12

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
153301303	CV1689151	single nucleotide variant	NM_207506.3(SAMD12):c.13+16544C>A	Epilepsy, familial adult myoclonic, 1 [RCV002266879]	uncertain significance	8	118605260	118605260	Human	1	name
155970202	CV2400869	single nucleotide variant	NM_207506.3(SAMD12):c.70A>G (p.Ile24Val)	Inborn genetic diseases [RCV002754813]	uncertain significance	8	118580837	118580837	Human	1	name
401724264	CV2714775	single nucleotide variant	NM_207506.3(SAMD12):c.40G>A (p.Gly14Ser)	Inborn genetic diseases [RCV003268572]	uncertain significance	8	118580867	118580867	Human	1	name
156359237	CV2261051	single nucleotide variant	NM_207506.3(SAMD12):c.292A>T (p.Ser98Cys)	Inborn genetic diseases [RCV002812563]	uncertain significance	8	118439862	118439862	Human	1	name
329392420	CV2438936	single nucleotide variant	NM_207506.3(SAMD12):c.106C>G (p.Gln36Glu)	Inborn genetic diseases [RCV003192656]	uncertain significance	8	118580801	118580801	Human	1	name
401737877	CV2700763	single nucleotide variant	NM_207506.3(SAMD12):c.145C>A (p.Gln49Lys)	Inborn genetic diseases [RCV003291692]	uncertain significance	8	118580762	118580762	Human	1	name
401863556	CV2770699	single nucleotide variant	NM_207506.3(SAMD12):c.164G>A (p.Arg55Gln)	Inborn genetic diseases [RCV003359027]	uncertain significance	8	118580743	118580743	Human	1	name
405854365	CV3393891	single nucleotide variant	NM_207506.3(SAMD12):c.258G>C (p.Leu86Phe)	not provided [RCV004547117]	uncertain significance	8	118439896	118439896	Human		name
407469200	CV3483557	single nucleotide variant	NM_207506.3(SAMD12):c.292A>C (p.Ser98Arg)	Inborn genetic diseases [RCV004661396]	uncertain significance	8	118439862	118439862	Human	1	name
408391263	CV3523127	single nucleotide variant	NM_207506.3(SAMD12):c.218C>T (p.Pro73Leu)	not provided [RCV004770499]	uncertain significance	8	118439936	118439936	Human		name
153000124	CV1682879	single nucleotide variant	NM_207506.3(SAMD12):c.365T>A (p.Met122Lys)	Inborn genetic diseases [RCV004958502]\|See cases [RCV002252889]	uncertain significance	8	118379658	118379658	Human	1	name
156267968	CV2305710	single nucleotide variant	NM_207506.3(SAMD12):c.602T>A (p.Ile201Asn)	Inborn genetic diseases [RCV002920920]	uncertain significance	8	118379421	118379421	Human	1	name
401763811	CV2725310	single nucleotide variant	NM_207506.3(SAMD12):c.365T>C (p.Met122Thr)	Inborn genetic diseases [RCV003258341]	uncertain significance	8	118379658	118379658	Human	1	name
401924174	CV2821261	single nucleotide variant	NM_207506.3(SAMD12):c.320C>T (p.Thr107Ile)	not provided [RCV003435610]	likely benign	8	118439834	118439834	Human		name
405699948	CV3227265	single nucleotide variant	NM_207506.3(SAMD12):c.362G>T (p.Arg121Leu)	Epilepsy, familial adult myoclonic, 1 [RCV003993617]	uncertain significance	8	118379661	118379661	Human	1	name
405722150	CV3320402	single nucleotide variant	NM_207506.3(SAMD12):c.599A>G (p.Gln200Arg)	Inborn genetic diseases [RCV004449963]	uncertain significance	8	118379424	118379424	Human	1	name
407469197	CV3483556	single nucleotide variant	NM_207506.3(SAMD12):c.596T>C (p.Ile199Thr)	Inborn genetic diseases [RCV004661395]	likely benign	8	118379427	118379427	Human	1	name
407469202	CV3483558	single nucleotide variant	NM_207506.3(SAMD12):c.406C>A (p.Gln136Lys)	Inborn genetic diseases [RCV004661397]	uncertain significance	8	118379617	118379617	Human	1	name
597632255	CV3594679	single nucleotide variant	NM_207506.3(SAMD12):c.418C>A (p.Leu140Met)	Inborn genetic diseases [RCV004968724]	uncertain significance	8	118379605	118379605	Human	1	name
598208412	CV3906515	single nucleotide variant	NM_207506.3(SAMD12):c.512A>G (p.Lys171Arg)	Inborn genetic diseases [RCV005270245]	uncertain significance	8	118379511	118379511	Human	1	name
13786501	CV551266	microsatellite	SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4	Epilepsy, familial adult myoclonic, 1 [RCV000678257]	pathogenic\|likely pathogenic				Human		name

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